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- Entry - *311800 - PHOSPHOGLYCERATE KINASE 1; PGK1 - OMIM
PGK Matsue mRNA was present in normal amounts in fibroblasts, suggesting the enzyme deficiency was due to a 7- to 10-fold increase in degradation of the mutant enzyme
- Polymorphisms in the coding and noncoding regions of murine
When transfected into human cells, the Pgk -1 b allele causes the appearance of mouse PGK-1 b enzyme activity We describe here cloning of mouse Pgk -1 a, an allele of Pgk -1 which encodes an enzyme, PGK-1 a, with distinct electrophoretic mobility
- History of the methodology of disease gene identification
A special case of positional cloning was the identification of some causative genes that mapped in deleted regions of the genome identified by comparative genomic hybridization using arrays of oligonucleotide probes (aCGH)
- Molecular Insights on Pathogenic Effects of Mutations Causing . . .
The main objective of this research was to define how the enzyme alterations caused by PGK1 mutations could affect enzyme activity and generate the clinical manifestations of this disease
- Phosphoglycerate kinase - Wikipedia
PGK is the only enzyme in the immediate glycolytic pathway encoded by an X-linked gene In the case of hemolytic anemia, PGK deficiency occurs in the erythrocytes
- PGK1 - Phosphoglycerate kinase 1 - Homo sapiens (Human) | UniProtKB
Dysregulated mitochondrial targeting of PGK1 may contribute to the elevation of aerobic glycolysis seen in tumor cells, a phenomenon known as the Warburg effect
- Phosphoglycerate Kinase Deficiency: Characterization of the Wild-Type . . .
To analyze the mutations at protein level and possibly to correlate the genotype to clinical phenotype, we started with the molecular characterization of the wild-type PGK1 enzyme and three mutants (I47N, D164 and S320N) obtained from E coli as recombinant proteins
- Phosphoglycerate kinase deficiency - MedlinePlus
Phosphoglycerate kinase deficiency is caused by mutations in the PGK1 gene This gene provides instructions for making an enzyme called phosphoglycerate kinase, which is involved in a critical energy-producing process in cells known as glycolysis
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